A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599216



Internal ID16386625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104693208..105190413hg38UCSC Ensembl
Innerchr5:104028909..104526114hg19UCSC Ensembl
Innerchr5:104056808..104554013hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38497206
hg19497206
hg18497206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039657
Samples
Known GenesRAB9BP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599216
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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